HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456930T>A , CM000683.2:g.44456930T>A | GRCh38 |
NC_000021.8:g.45876813T>A , CM000683.1:g.45876813T>A | GRCh37 |
NC_000021.7:g.44701241T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.286T>A MANE Select | ENSP00000291592.4:p.Ser96Thr | |
ENST00000291592.5:c.286T>A | ENSP00000291592.4:p.Ser96Thr | |
NM_030891.4:c.286T>A | NP_112153.1:p.Ser96Thr | |
NM_030891.5:c.286T>A | NP_112153.1:p.Ser96Thr | |
NM_030891.6:c.286T>A MANE Select | NP_112153.1:p.Ser96Thr |